{
    "disease_id": "DOID:0070616",
    "recommended_name": {
        "id": "DOID:0070616",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070616",
        "name": "glycine encephalopathy 1",
        "description": "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0070616",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070616",
            "name": "GCE1",
            "description": ""
        },
        {
            "id": "MONDO:0958179",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958179",
            "name": "glycine encephalopathy 1",
            "description": ""
        },
        {
            "id": "MIM:605899",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605899",
            "name": "Non-ketotic hyperglycinemia",
            "description": "Non-ketotic hyperglycinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070616"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070616",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070616",
            "categories": []
        },
        {
            "id": "MONDO:0958179",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958179",
            "categories": []
        },
        {
            "id": "MIM:605899",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605899",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91W43-1",
            "uniprot_ac": "Q91W43",
            "uniprot_id": "GCSP_MOUSE",
            "refseq_ac": "NP_613061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine dehydrogenase (decarboxylating), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.4.4.2",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system P protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine dehydrogenase (aminomethyl-transferring)",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system P protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase (aminomethyl-transferring)",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase (decarboxylating), mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase (decarboxylating), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase [decarboxylating], mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gldc",
                    "type": "recommended"
                },
                {
                    "name": "D030049L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "D19Wsu57e",
                    "type": "synonym"
                },
                {
                    "name": "Gldc",
                    "type": "synonym"
                },
                {
                    "name": "b2b2679Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W43-1",
            "evidence": [
                {
                    "id": "0070616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23378-1",
            "uniprot_ac": "P23378",
            "uniprot_id": "GCSP_HUMAN",
            "refseq_ac": "NP_000161",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine dehydrogenase (decarboxylating), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.4.4.2",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system P protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine dehydrogenase (aminomethyl-transferring)",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system protein P",
                    "type": "synonym"
                },
                {
                    "name": "glycine decarboxylase P-protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase (aminomethyl-transferring)",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase (decarboxylating), mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase (decarboxylating), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glycine dehydrogenase [decarboxylating], mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "nonketotic hyperglycinemia",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLDC",
                    "type": "recommended"
                },
                {
                    "name": "GCE1",
                    "type": "synonym"
                },
                {
                    "name": "GCE",
                    "type": "synonym"
                },
                {
                    "name": "GCSP",
                    "type": "synonym"
                },
                {
                    "name": "GLDC",
                    "type": "synonym"
                },
                {
                    "name": "HYGN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23378-1",
            "evidence": [
                {
                    "id": "605899",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605899"
                },
                {
                    "id": "0070616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49095-1",
            "uniprot_ac": "P49095",
            "uniprot_id": "GCSP_YEAST",
            "refseq_ac": "NP_013914",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine dehydrogenase (decarboxylating), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.4.4.2",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system P protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycine decarboxylase complex subunit P",
                    "type": "synonym"
                },
                {
                    "name": "Glycine decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "Glycine dehydrogenase (aminomethyl-transferring)",
                    "type": "synonym"
                },
                {
                    "name": "glycine decarboxylase subunit P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCV2",
                    "type": "recommended"
                },
                {
                    "name": "GCV2",
                    "type": "synonym"
                },
                {
                    "name": "GSD2",
                    "type": "synonym"
                },
                {
                    "name": "YM9646.01",
                    "type": "synonym"
                }
            ],
            "record_id": "P49095-1",
            "evidence": [
                {
                    "id": "0070616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AWV3-1",
            "uniprot_ac": "A0A8I6AWV3",
            "uniprot_id": "A0A8I6AWV3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine cleavage system P protein",
                    "type": "recommended"
                },
                {
                    "name": "1.4.4.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gldc",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AWV3-1",
            "evidence": [
                {
                    "id": "0070616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070616"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH09-1",
            "uniprot_ac": "Q9VH09",
            "uniprot_id": "Q9VH09_DROME",
            "refseq_ac": "NP_001262456",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine cleavage system P protein",
                    "type": "recommended"
                },
                {
                    "name": "1.4.4.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3999-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gldc",
                    "type": "recommended"
                },
                {
                    "name": "CG3999",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3999",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3999",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH09-1",
            "evidence": [
                {
                    "id": "0070616",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070616"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070616"
}